SLC3A1 R362H - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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SLC3A1 R362H

(SLC3A1 Arg362His)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • None available.



Other external references

  • Cystinuria
  • Score: 1.0 (probably damaging)
    Web search results (3 hits -- see all)
  • OMIM: 104614
    Calonge et al. (1995) also referred to the SLC3A1 gene as rBAT. ... 6 of the SLC3A1 gene in the other allele, resulting in an arg362-to-his (R362H; 104614.0008) substitution. ...
  • OMIM: 604144
    All SLC3A1 carriers and 14% of SLC7A9 carriers showed a normal amino ... SLC3A1 gene and an R362H substitution (104614.0008) in the other allele of the SLC3A1 ...
  • Type II- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT ... Q09470 R204H 199 VAR_020051 PKC (0.539) Polymorphism (dbSNP:rs2229000) SLC3A1 ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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